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Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Scientific reports, 2023-07, Vol.13 (1), p.11223-11223, Article 11223

2023

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1628-n/a

2021

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The ECEL1 -related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Journal of AAPOS, 2014-08, Vol.18 (4), p.362-367

2014

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Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Journal of AAPOS, 2015-12, Vol.19 (6), p.577-579

2015

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Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

Ophthalmology (Rochester, Minn.), 2013-05, Vol.120 (5), p.956-960

2013

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Elevation deficiency in children with recessive RDH12 -related retinopathy

Journal of AAPOS, 2015-12, Vol.19 (6), p.568-570

2015

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LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

Human genetics, 2015-04, Vol.134 (4), p.451-453

2015

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LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME

Retina (Philadelphia, Pa.), 2023-03, Vol.43 (3), p.498

2023

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Congenital glaucoma with acquired peripheral circumferential iris degeneration

Journal of AAPOS, 2013-02, Vol.17 (1), p.105-107

2013

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The distinct ophthalmic phenotype of Knobloch syndrome in children

British journal of ophthalmology, 2012-06, Vol.96 (6), p.890-895

2012

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Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

Journal of AAPOS, 2013-12, Vol.17 (6), p.643-645

2013

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‘Cone dystrophy with supranormal rod response’ in children

British journal of ophthalmology, 2012-03, Vol.96 (3), p.422-426

2012

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Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Ophthalmology retina, 2024-02, Vol.8 (2), p.155-162

2024

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Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

American journal of ophthalmology, 2013-02, Vol.155 (2), p.361-372.e7

2013

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Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Journal of AAPOS, 2011-04, Vol.15 (2), p.198-199

2011

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Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Human genetics, 2016-02, Vol.135 (2), p.193-200

2016

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Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats

Investigative ophthalmology & visual science, 2012-04, Vol.53 (4), p.1895-1904

2012

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Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Ophthalmic genetics, 2015-03, Vol.36 (1), p.58-63

2015

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The RPGRIP1-related retinal phenotype in children

British journal of ophthalmology, 2013-06, Vol.97 (6), p.760-764

2013

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Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation

Ophthalmic genetics, 2018-10, Vol.39 (5), p.577-583

2018

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Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Investigative ophthalmology & visual science, 2009-09, Vol.50 (9), p.4142-4145

2009

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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Human molecular genetics, 2011-04, Vol.20 (8), p.1625-1632

2011

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Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

British journal of ophthalmology, 2012-05, Vol.96 (5), p.650-655

2012

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Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Ophthalmic genetics, 2015-03, Vol.36 (1), p.8-13

2015

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Genetic and genomic analysis of classic aniridia in Saudi Arabia

Molecular vision, 2011-03, Vol.17, p.708-714

2011

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Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

The ECEL1 -related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

Elevation deficiency in children with recessive RDH12 -related retinopathy

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME

Congenital glaucoma with acquired peripheral circumferential iris degeneration

The distinct ophthalmic phenotype of Knobloch syndrome in children

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

‘Cone dystrophy with supranormal rod response’ in children

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

The RPGRIP1-related retinal phenotype in children

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Genetic and genomic analysis of classic aniridia in Saudi Arabia

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